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VWS1
MCID: VND007
MIFTS: 58

Van Der Woude Syndrome 1 (VWS1)

Categories: Endocrine diseases, Fetal diseases, Genetic diseases, Oral diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes
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Aliases & Classifications for Van Der Woude Syndrome 1

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MalaCards integrated aliases for Van Der Woude Syndrome 1:

Name: Van Der Woude Syndrome 1 56 73
Van Der Woude Syndrome 56 12 74 52 25 58 36 29 13 54 6 43 15 71
Lip-Pit Syndrome 56 12 25 58 73
Cleft Lip and/or Palate with Mucous Cysts of Lower Lip 56 52 25 73
Vdws 56 52 25 73
Lps 56 52 73
Vws 52 25 58
Vws1 56 73
Myopathy, Actin, Congenital, with Excess of Thin Myofilaments 43
Cleft Lip/palate with Mucous Cysts of Lower Lip 58
Van Der Woude Syndrome, Type 1 39
Lip-Pit Syndrome; Lps; Pit 56
Lip Pit Syndrome 52
Lip Pit 29
Pit 73

Characteristics:

Orphanet epidemiological data:

58
van der woude syndrome
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-9/100000 (Finland),1-9/100000 (France),1-9/100000 (Australia),1-9/1000000 (Taiwan, Province of China),1-9/1000000 (United States),1-9/100000 (Europe); Age of onset: Neonatal; Age of death: normal life expectancy;

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
van der woude syndrome 1:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Endocrine diseases Oral diseases
See all MalaCards categories (disease lists)
ICD10: 32 33
Orphanet: 58  
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0060239
OMIM 56 119300
KEGG 36 H01927
NCIt 49 C74986
SNOMED-CT 67 79261008
ICD10 32 Q38.0
MESH via Orphanet 44 C536528
ICD10 via Orphanet 33 Q38.0
UMLS via Orphanet 72 C0175697
Orphanet 58 ORPHA888
UMLS 71 C0175697 C1834339
Sources

Summaries for Van Der Woude Syndrome 1

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KEGG : 36 Van der Woude syndrome (VWS), the most frequent form of syndromic clefting, is a rare developmental, congenital malformation with autosomal dominant inheritance, high penetrance, and variable expressivity. Clinical manifestation includes bilateral midline lower lip pits, cleft lip, and cleft palate along with hypodontia. The other associated features of VWS which may or may not be present are hypoplasia, ankyloglossia, high arched palate, limb anomalies, congenital heart defects, and so forth. Popliteal pterygium syndrome (PPS) is an allelic syndrome of VWS. These syndromes emanate mainly from etiologic variants in IRF6 gene, though GRHL3 has been shown to be mutated in about 5% of VWS patients that lack etiologic variants in IRF6. Etiologic IRF6 variants account for over 70% of cases of VWS. The treatment of VWS patients includes all necessary surgical and multidisciplinary procedures for the correction of serious anomalies including clefts.

MalaCards based summary : Van Der Woude Syndrome 1, also known as van der woude syndrome, is related to van der woude syndrome 2 and witkop syndrome. An important gene associated with Van Der Woude Syndrome 1 is IRF6 (Interferon Regulatory Factor 6), and among its related pathways/superpathways are Wnt / Hedgehog / Notch and Embryonic and Induced Pluripotent Stem Cells and Lineage-specific Markers. Affiliated tissues include heart, salivary gland and tongue, and related phenotypes are cleft palate and lower lip pit

Disease Ontology : 12 A syndrome characterized by the combination of lower lip pits, cleft lip with or without cleft palate and cleft palate alone.

Genetics Home Reference : 25 Van der Woude syndrome is a condition that affects the development of the face. Many people with this disorder are born with a cleft lip, a cleft palate (an opening in the upper lip or roof of the mouth), or both. Affected individuals usually have depressions (pits) near the center of the lower lip, which may appear moist due to the presence of salivary and mucous glands in the pits. Small mounds of tissue on the lower lip may also occur. In some cases, people with van der Woude syndrome have missing teeth. People with van der Woude syndrome who have cleft lip and/or palate, like other individuals with these facial conditions, have an increased risk of delayed language development, learning disabilities, or other mild cognitive problems. The average IQ of individuals with van der Woude syndrome is not significantly different from that of the general population.

NIH Rare Diseases : 52 Van der Woude syndrome is a condition that affects the development of the face. Many people with this disorder are born with a cleft lip and/or a cleft palate . Affected individuals usually have depressions (pits) near the center of the lower lip, which may appear moist due to the presence of salivary and mucous glands in the pits. Small mounds of tissue on the lower lip may also occur. In some cases, people with van der Woude syndrome have missing teeth. Growth and intelligence are usually normal. This condition is caused by mutations in the IRF6 gene and is inherited in a autosomal dominant fashion. Van der Woude syndrome represents the mild end of the spectrum of disorders known as IRF6-related disorders . At the more severe end of the spectrum is popliteal pterygium syndrome .

OMIM : 56 Van der Woude syndrome (VWS) is a dominantly inherited developmental disorder characterized by pits and/or sinuses of the lower lip, and cleft lip and/or cleft palate (CL/P, CP). It is the most common cleft syndrome. (119300)

UniProtKB/Swiss-Prot : 73 Van der Woude syndrome 1: An autosomal dominant developmental disorder characterized by lower lip pits, cleft lip and/or cleft palate.

Wikipedia : 74 Van der Woude syndrome (VDWS) is a genetic disorder characterized by the combination of lower lip pits,... more...

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Related Diseases for Van Der Woude Syndrome 1

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Diseases in the Van Der Woude Syndrome 1 family:

Van Der Woude Syndrome 2

Diseases related to Van Der Woude Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 1158)
# Related Disease Score Top Affiliating Genes
1 van der woude syndrome 2 32.8 GRHL3 CFAP57
2 witkop syndrome 32.3 PAX9 MSX1
3 popliteal pterygium syndrome 32.2 VAX1 TGFB3 TFAP2A TBX22 RIPK4 NHLH1
4 cleft lip/palate 32.1 TP63 NECTIN1 MSX1 IRF6 ARHGAP29
5 syngnathia 31.6 MSX1 IRF6
6 ankyloglossia with or without tooth anomalies 31.5 TBX22 PAX9 MSX1 IRF6
7 chromosome 2q35 duplication syndrome 31.4 TP63 NECTIN1 MSX1 IRF6
8 cleft lip with or without cleft palate 31.3 TFAP2A TBX10 NECTIN1 MSX1 IRF6 ARHGAP29
9 cleft lip and alveolus 31.2 TP63 NECTIN1 MSX1 IRF6
10 cleft lip 31.2 VAX1 TP63 TGFB3 TFAP2A TBX22 TBX10
11 cleft palate, isolated 30.8 VAX1 TP63 TGFB3 TFAP2A TBX22 TBX10
12 coloboma of macula 30.5 VAX1 TFAP2A MSX1
13 tooth agenesis 30.3 TP63 TGFB3 TBX22 PAX9 NHLH1 NECTIN1
14 neural tube defects 30.2 TGFB3 PAX9 MSX1 GRHL3 GRHL2
15 orofacial cleft 30.2 VAX1 TP63 TGFB3 TFAP2A TBX22 TBX10
16 isolated cleft lip 29.8 TP63 TBX10 NECTIN1 MSX1 IRF6 FOXE1
17 ectodermal dysplasia 29.7 TP63 NECTIN1 MSX1 KDF1 GRHL2
18 nemaline myopathy 3 12.6
19 remitting seronegative symmetrical synovitis with pitting edema 12.6
20 hypertelorism, preauricular sinus, punctal pits, and deafness 12.5
21 ear pits, posterior helical 12.4
22 optic disc pit 12.4
23 annular lichen planus 12.2
24 annular atrophic lichen planus 12.1
25 irf6-related disorders 12.0
26 actinic lichen planus 12.0
27 atrophic lichen planus 12.0
28 lichen planus 12.0
29 rare lichen planus 12.0
30 lachiewicz sibley syndrome 11.9
31 lipoprotein quantitative trait locus 11.7
32 lipoid proteinosis of urbach and wiethe 11.7
33 reticulate acropigmentation of kitamura 11.6
34 lichen planus pemphigoides 11.6
35 basal cell nevus syndrome 11.6
36 dental caries 11.6
37 coloboma of optic nerve 11.5
38 preauricular fistulae, congenital 11.5
39 beckwith-wiedemann syndrome 11.5
40 amelogenesis imperfecta 11.5
41 cavitary optic disc anomalies 11.5
42 amelogenesis imperfecta, type ih 11.5
43 molluscum contagiosum 11.5
44 lichen planus pigmentosus 11.5
45 linear lichen planus 11.5
46 branchiootorenal syndrome 1 11.4
47 preauricular sinus 11.4
48 alopecia areata 11.3
49 kuster syndrome 11.3
50 vulvovaginal gingival syndrome 11.3

Graphical network of the top 20 diseases related to Van Der Woude Syndrome 1:



Diseases related to Van Der Woude Syndrome 1
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Symptoms & Phenotypes for Van Der Woude Syndrome 1

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Human phenotypes related to Van Der Woude Syndrome 1:

58 31 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cleft palate 58 31 frequent (33%) Frequent (79-30%) HP:0000175
2 lower lip pit 58 31 frequent (33%) Frequent (79-30%) HP:0000196
3 cleft upper lip 58 31 occasional (7.5%) Occasional (29-5%) HP:0000204
4 hypodontia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000668
5 abnormal salivary gland morphology 31 occasional (7.5%) HP:0010286
6 bifid uvula 31 HP:0000193
7 abnormality of the salivary glands 58 Occasional (29-5%)
8 lip pit 58 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Mouth:
cleft palate
cleft lip
lower lip pits
cleft uvula

Head And Neck Teeth:
hypodontia

Clinical features from OMIM:

119300

GenomeRNAi Phenotypes related to Van Der Woude Syndrome 1 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-1 9.55 MSX1
2 Decreased viability GR00221-A-2 9.55 ARHGAP29
3 Decreased viability GR00221-A-3 9.55 RIPK4
4 Decreased viability GR00221-A-4 9.55 ARHGAP29
5 Decreased viability GR00249-S 9.55 RIPK4 TFAP2A TP63
6 Decreased viability GR00381-A-1 9.55 GRHL2 GRHL3 KDF1
7 Decreased viability GR00386-A-1 9.55 GRHL3 PAX9 TBX22
8 Decreased viability GR00402-S-2 9.55 KDF1 MSX1 PAX9 TBX22

MGI Mouse Phenotypes related to Van Der Woude Syndrome 1:

45 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 10.46 ACTA1 ARHGAP29 FOXE1 GRHL2 GRHL3 HR
2 growth/size/body region MP:0005378 10.41 ACTA1 ARHGAP29 FOXE1 GRHL2 GRHL3 HR
3 digestive/alimentary MP:0005381 10.37 ARHGAP29 FOXE1 GRHL3 HR IRF6 KDF1
4 behavior/neurological MP:0005386 10.34 ACTA1 GRHL2 GRHL3 HR MSX1 NECTIN1
5 mortality/aging MP:0010768 10.3 ACTA1 ARHGAP29 FOXE1 GRHL2 GRHL3 HR
6 embryo MP:0005380 10.18 ARHGAP29 GRHL2 GRHL3 HR IRF6 MSX1
7 integument MP:0010771 10.14 FOXE1 GRHL3 HR IRF6 KDF1 MSX1
8 limbs/digits/tail MP:0005371 10.07 GRHL2 GRHL3 IRF6 KDF1 MSX1 PAX9
9 hearing/vestibular/ear MP:0005377 10.03 ARHGAP29 HR IRF6 KDF1 MSX1 PAX9
10 normal MP:0002873 9.86 GRHL3 MSX1 PAX9 TBX10 TBX22 TFAP2A
11 respiratory system MP:0005388 9.81 GRHL2 KDF1 MSX1 PAX9 RIPK4 TBX22
12 skeleton MP:0005390 9.73 ACTA1 GRHL2 GRHL3 IRF6 MSX1 NECTIN1
13 vision/eye MP:0005391 9.36 ACTA1 GRHL2 GRHL3 HR MSX1 NECTIN1
Sources

Drugs & Therapeutics for Van Der Woude Syndrome 1

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Search Clinical Trials , NIH Clinical Center for Van Der Woude Syndrome 1

Cochrane evidence based reviews: van der woude syndrome

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Genetic Tests for Van Der Woude Syndrome 1

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Genetic tests related to Van Der Woude Syndrome 1:

# Genetic test Affiliating Genes
1 Van Der Woude Syndrome 29 IRF6
2 Lip Pit 29
Sources

Anatomical Context for Van Der Woude Syndrome 1

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MalaCards organs/tissues related to Van Der Woude Syndrome 1:

40
Heart, Salivary Gland, Tongue, Brain, Cortex, Testes
Sources

Publications for Van Der Woude Syndrome 1

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Articles related to Van Der Woude Syndrome 1:

(show top 50) (show all 293)
# Title Authors PMID Year
1
Three novel mutations of the IRF6 gene with one associated with an unusual feature in Van der Woude syndrome. 56 6 54 61
19842205 2009
2
A novel mutation in IRF6 resulting in VWS-PPS spectrum disorder with renal aplasia. 6 56 61 54
18478600 2008
3
Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes. 61 54 6 56
12219090 2002
4
Epidemiology of Van der Woude syndrome from mutational analyses in affected patients from Pakistan. 61 56 6
20184620 2010
5
Six families with van der Woude and/or popliteal pterygium syndrome: all with a mutation in the IRF6 gene. 56 6
14757865 2004
6
Novel mutations in the IRF6 gene for Van der Woude syndrome. 54 61 6
12920575 2003
7
Novel IRF6 mutations in Japanese patients with Van der Woude syndrome: two missense mutations (R45Q and P396S) and a 17-kb deletion. 61 54 6
14618417 2003
8
An etiologic regulatory mutation in IRF6 with loss- and gain-of-function effects. 56 61
24442519 2014
9
Dominant mutations in GRHL3 cause Van der Woude Syndrome and disrupt oral periderm development. 6 61
24360809 2014
10
Genomic strategy identifies a missense mutation in WD-repeat domain 65 (WDR65) in an individual with Van der Woude syndrome. 61 6
21574244 2011
11
Abnormal brain structure in adults with Van der Woude syndrome. 61 56
17539900 2007
12
IRF6-Related Disorders 6 61
20301581 2003
13
Possible relationship between the van der Woude syndrome (vWS) locus and nonsyndromic cleft lip with or without cleft palate (NSCL/P). 56 61
11746036 2001
14
Matroshka and ectopic polymorphisms: Two new classes of DNA sequence variation identified at the Van der Woude syndrome locus on 1q32-q41. 56 61
11668635 2001
15
Mapping of the second locus for the Van der Woude syndrome to chromosome 1p34. 6 61
11781685 2001
16
Genetic heterogeneity and exclusion of a modifying locus at 17p11.2-p11.1 in Finnish families with van der Woude syndrome. 56 61
11303516 2001
17
Report of two cases with Van der Woude syndrome: a child and her mother. 61 56
11837602 2001
18
1q32-q41 microdeletion with reference to Van der Woude syndrome and allied clefting entities. 61 56
10748420 2000
19
Popliteal pterygium syndrome: a clinical study of three families and report of linkage to the Van der Woude syndrome locus on 1q32. 56 61
10593995 1999
20
Linkage analysis in a large Brazilian family with van der Woude syndrome suggests the existence of a susceptibility locus for cleft palate at 17p11.2-11.1. 61 56
10417286 1999
21
Confirmation of linkage of Van der Woude syndrome to chromosome 1q32: evidence of association with STR alleles suggests possible unique origin of the disease mutation. 61 56
10589394 1999
22
Microdeletions at chromosome bands 1q32-q41 as a cause of Van der Woude syndrome. 56 61
10323740 1999
23
Linkage analysis of 5 novel van der Woude syndrome kindreds to 1q32-q41 markers further supports locus homogeneity of the disease trait. 61 56
10434119 1999
24
Refinement of the Van der Woude gene location and construction of a 3.5-Mb YAC contig and STS map spanning the critical region in 1q32-q41. 61 56
8884274 1996
25
Evidence for a microdeletion in 1q32-41 involving the gene responsible for Van der Woude syndrome. 56 61
8069301 1994
26
Linkage of an autosomal dominant clefting syndrome (Van der Woude) to loci on chromosome Iq. 56 61
2309700 1990
27
Linkage studies in a pedigree with Van der Woude syndrome. 56 61
3572998 1987
28
Lip pits and deletion 1q32----41. 56 61
3812594 1987
29
van der Woude syndrome in two families in China. 61 56
3429616 1987
30
The Van der Woude syndrome (dominantly inherited lip pits and clefts). 61 56
3746828 1986
31
Genetic analysis in families with van der Woude syndrome. 61 56
4019732 1985
32
Correlations between microforms of the Van der Woude syndrome and cleft palate. 61 56
6573981 1983
33
The van der Woude syndrome in a large kindred: variability, penetrance, genetic risks. 61 56
7395906 1980
34
The penetrance and variable expression of the Van der Woude syndrome: implications for genetic counseling. 56 61
6928118 1980
35
Linkage studies in Van der Woude syndrome. 56 61
671486 1978
36
Mutation screening in the IRF6-gene in patients with apparently nonsyndromic orofacial clefts and a positive family history suggestive of autosomal-dominant inheritance. 56
18247422 2008
37
Novel and de novo mutations of the IRF6 gene detected in patients with Van der Woude or popliteal pterygium syndrome. 6
16160700 2005
38
Structural brain abnormalities in adult males with clefts of the lip and/or palate. 56
11839951 2002
39
Lip pits and congenital absence of second premolars: varied expression of the Lip Pits syndrome. 56
4272740 1973
40
Congenital lower lip sinuses with cleft palate. 56
5411896 1970
41
The syndrome of pits of the lower lip and cleft lip and/or palate. Genetic considerations. 56
6026934 1967
42
A FAMILY WITH BILATERAL CONGENITAL PITS OF THE INFERIOR LIP. 56
14198088 1964
43
[Twins in a family with lower lip malformation]. 56
14464774 1962
44
Fistula labii inferioris congenita and its association with cleft lip and palate. 56
13158329 1954
45
Dominant inheritance of cleft lip and palate in five generations. 56
18897035 1947
46
A heritable cause of cleft lip and palate--Van der Woude syndrome caused by a novel IRF6 mutation. Review of the literature and of the differential diagnosis. 61 54
19536562 2010
47
Coding region of IRF6 gene may not be causal for Van der Woude syndrome in cases from India. 54 61
19929101 2009
48
The association between interferon regulatory factor 6 (IRF6) and nonsyndromic cleft lip with or without cleft palate in a Honduran population. 61 54
19536891 2009
49
Cleft palate lateral synechia syndrome: an opportunity for unique surgical closure. 54 61
19368978 2009
50
Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome. 61 54
19282774 2009
Sources

Variations for Van Der Woude Syndrome 1

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ClinVar genetic disease variations for Van Der Woude Syndrome 1:

6 (show top 50) (show all 138) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 IRF6 NM_006147.4(IRF6):c.113T>C (p.Ile38Thr)SNV Pathogenic 397639 rs1060499555 1:209974646-209974646 1:209801301-209801301
2 IRF6 NM_006147.4(IRF6):c.1195del (p.Ala399fs)deletion Pathogenic 458680 rs1553247602 1:209961974-209961974 1:209788629-209788629
3 IRF6 NM_006147.4(IRF6):c.749G>A (p.Arg250Gln)SNV Pathogenic 458684 rs1553247774 1:209964151-209964151 1:209790806-209790806
4 IRF6 NM_006147.4(IRF6):c.1234C>T (p.Arg412Ter)SNV Pathogenic 458682 rs1553247595 1:209961935-209961935 1:209788590-209788590
5 IRF6 NM_006147.4(IRF6):c.720del (p.Thr240_Met241insTer)deletion Pathogenic 617619 1:209964180-209964180 1:209790835-209790835
6 IRF6 NM_006147.4(IRF6):c.133del (p.Arg45fs)deletion Pathogenic 659301 1:209974626-209974626 1:209801281-209801281
7 IRF6 NM_006147.4(IRF6):c.989C>A (p.Ser330Ter)SNV Pathogenic 844327 1:209963911-209963911 1:209790566-209790566
8 IRF6 NM_006147.4(IRF6):c.180G>A (p.Trp60Ter)SNV Pathogenic 843190 1:209969892-209969892 1:209796547-209796547
9 IRF6 NM_006147.4(IRF6):c.179G>A (p.Trp60Ter)SNV Pathogenic 851809 1:209969893-209969893 1:209796548-209796548
10 IRF6 NM_006147.4(IRF6):c.137_174+12deldeletion Pathogenic 872903
11 IRF6 NM_006147.4(IRF6):c.1198C>T (p.Arg400Trp)SNV Pathogenic 3419 rs28942095 1:209961971-209961971 1:209788626-209788626
12 IRF6 nsv1067914deletion Pathogenic 3420 1:209955818-209972979 1:209782473-209799634
13 IRF6 NM_006147.4(IRF6):c.134G>A (p.Arg45Gln)SNV Pathogenic 3421 rs121434229 1:209974625-209974625 1:209801280-209801280
14 IRF6 NM_006147.4(IRF6):c.1186C>T (p.Pro396Ser)SNV Pathogenic 3422 rs121434230 1:209961983-209961983 1:209788638-209788638
15 IRF6 NM_006147.4(IRF6):c.1016G>T (p.Arg339Ile)SNV Pathogenic 3423 rs121434231 1:209963884-209963884 1:209790539-209790539
16 ACTA1 NM_001100.3(ACTA1):c.49G>C (p.Gly17Arg)SNV Pathogenic 18281 rs121909521 1:229568814-229568814 1:229433067-229433067
17 IRF6 NM_006147.4(IRF6):c.65T>C (p.Leu22Pro)SNV Pathogenic 30652 rs387906967 1:209974694-209974694 1:209801349-209801349
18 IRF6 NM_006147.4(IRF6):c.145C>T (p.Gln49Ter)SNV Pathogenic 40077 rs397515434 1:209974614-209974614 1:209801269-209801269
19 IRF6 NM_006147.4(IRF6):c.1199G>A (p.Arg400Gln)SNV Pathogenic 101515 rs200166664 1:209961970-209961970 1:209788625-209788625
20 IRF6 NM_006147.4(IRF6):c.1137G>A (p.Trp379Ter)SNV Pathogenic 3418 rs121434228 1:209963054-209963054 1:209789709-209789709
21 IRF6 NM_006147.4(IRF6):c.274G>T (p.Glu92Ter)SNV Pathogenic 3411 rs121434224 1:209969798-209969798 1:209796453-209796453
22 IRF6 NM_006147.4(IRF6):c.870_888delinsA (p.Phe290_Asp296delinsLeu)indel Pathogenic 3412 rs587776569 1:209964012-209964030 1:209790667-209790685
23 IRF6 NM_006147.4(IRF6):c.250C>T (p.Arg84Cys)SNV Pathogenic 3414 rs121434226 1:209969822-209969822 1:209796477-209796477
24 IRF6 NM_006147.4(IRF6):c.251G>A (p.Arg84His)SNV Pathogenic 3415 rs121434227 1:209969821-209969821 1:209796476-209796476
25 IRF6 NM_006147.4(IRF6):c.5C>T (p.Ala2Val)SNV Pathogenic 3416 rs28942093 1:209974754-209974754 1:209801409-209801409
26 IRF6 NM_006147.4(IRF6):c.226C>T (p.Pro76Ser)SNV Pathogenic 265196 rs886039388 1:209969846-209969846 1:209796501-209796501
27 IRF6 NM_006147.4(IRF6):c.16C>T (p.Arg6Cys)SNV Pathogenic/Likely pathogenic 3417 rs28942094 1:209974743-209974743 1:209801398-209801398
28 IRF6 NM_006147.4(IRF6):c.25C>T (p.Arg9Trp)SNV Pathogenic/Likely pathogenic 449039 rs1553248641 1:209974734-209974734 1:209801389-209801389
29 IRF6 NM_006147.4(IRF6):c.232A>G (p.Lys78Glu)SNV Likely pathogenic 458683 rs1553248271 1:209969840-209969840 1:209796495-209796495
30 IRF6 NM_006147.4(IRF6):c.1060+1G>ASNV Likely pathogenic 458679 rs781506407 1:209963839-209963839 1:209790494-209790494
31 IRF6 NM_006147.4(IRF6):c.120G>T (p.Trp40Cys)SNV Likely pathogenic 458681 rs1553248635 1:209974639-209974639 1:209801294-209801294
32 GRHL3 NM_198173.3(GRHL3):c.1225C>T (p.Arg409Cys)SNV Likely pathogenic 496682 rs770938921 1:24669202-24669202 1:24342712-24342712
33 IRF6 NM_006147.4(IRF6):c.659C>T (p.Ser220Phe)SNV Likely pathogenic 559856 rs1553247877 1:209965622-209965622 1:209792277-209792277
34 IRF6 NM_006147.4(IRF6):c.292G>C (p.Asp98His)SNV Likely pathogenic 650115 1:209969780-209969780 1:209796435-209796435
35 IRF6 NM_006147.4(IRF6):c.176C>T (p.Ala59Val)SNV Likely pathogenic 663350 1:209969896-209969896 1:209796551-209796551
36 IRF6 NM_006147.4(IRF6):c.950G>A (p.Cys317Tyr)SNV Likely pathogenic 643611 1:209963950-209963950 1:209790605-209790605
37 IRF6 NM_006147.4(IRF6):c.1314_1324del (p.Gln438fs)deletion Likely pathogenic 583293 rs1558038218 1:209961845-209961855 1:209788500-209788510
38 IRF6 NM_006147.4(IRF6):c.1210G>A (p.Glu404Lys)SNV Conflicting interpretations of pathogenicity 217873 rs769068305 1:209961959-209961959 1:209788614-209788614
39 IRF6 NM_006147.4(IRF6):c.*1473C>GSNV Conflicting interpretations of pathogenicity 295183 rs531092939 1:209960292-209960292 1:209786947-209786947
40 IRF6 NM_006147.4(IRF6):c.*2122T>CSNV Conflicting interpretations of pathogenicity 295176 rs567043500 1:209959643-209959643 1:209786298-209786298
41 IRF6 NM_006147.4(IRF6):c.*2268C>TSNV Uncertain significance 295174 rs752399888 1:209959497-209959497 1:209786152-209786152
42 IRF6 NM_001206696.1(IRF6):c.-335C>GSNV Uncertain significance 295218 rs886045887 1:209979515-209979515 1:209806170-209806170
43 IRF6 NM_006147.4(IRF6):c.-3-11G>CSNV Uncertain significance 295212 rs886045885 1:209974772-209974772 1:209801427-209801427
44 IRF6 NM_001206696.1(IRF6):c.-326C>TSNV Uncertain significance 295217 rs569844625 1:209979506-209979506 1:209806161-209806161
45 IRF6 NM_006147.4(IRF6):c.*219_*220insCAinsertion Uncertain significance 295204 rs886045882 1:209961545-209961546 1:209788200-209788201
46 IRF6 NM_006147.4(IRF6):c.*575T>ASNV Uncertain significance 295196 rs561885624 1:209961190-209961190 1:209787845-209787845
47 IRF6 NM_006147.4(IRF6):c.*2064G>ASNV Uncertain significance 295177 rs886045876 1:209959701-209959701 1:209786356-209786356
48 IRF6 NM_006147.4(IRF6):c.*1844G>ASNV Uncertain significance 295179 rs886045877 1:209959921-209959921 1:209786576-209786576
49 IRF6 NM_006147.4(IRF6):c.*1767G>ASNV Uncertain significance 295180 rs886045878 1:209959998-209959998 1:209786653-209786653
50 IRF6 NM_006147.4(IRF6):c.*2344C>TSNV Uncertain significance 295173 rs866747914 1:209959421-209959421 1:209786076-209786076

UniProtKB/Swiss-Prot genetic disease variations for Van Der Woude Syndrome 1:

73 (show all 34)
# Symbol AA change Variation ID SNP ID
1 IRF6 p.Ala2Val VAR_014961 rs28942093
2 IRF6 p.Val18Ala VAR_014962
3 IRF6 p.Val18Met VAR_014963
4 IRF6 p.Pro39Ala VAR_014964
5 IRF6 p.Ala61Gly VAR_014966
6 IRF6 p.Gly70Arg VAR_014968 rs776236749
7 IRF6 p.Pro76Ser VAR_014969 rs886039388
8 IRF6 p.Asn88His VAR_014973
9 IRF6 p.Ser90Gly VAR_014975
10 IRF6 p.Asp98His VAR_014976
11 IRF6 p.Arg250Gln VAR_014977 rs155324777
12 IRF6 p.Gln273Arg VAR_014978
13 IRF6 p.Leu294Pro VAR_014981
14 IRF6 p.Val297Ile VAR_014982
15 IRF6 p.Lys320Glu VAR_014983
16 IRF6 p.Val321Met VAR_014984
17 IRF6 p.Gly325Glu VAR_014985
18 IRF6 p.Leu345Pro VAR_014986
19 IRF6 p.Cys347Phe VAR_014987
20 IRF6 p.Phe369Ser VAR_014988 rs118541231
21 IRF6 p.Cys374Trp VAR_014989
22 IRF6 p.Lys388Glu VAR_014990
23 IRF6 p.Arg6Cys VAR_030046 rs28942094
24 IRF6 p.Ala16Val VAR_030047
25 IRF6 p.Leu22Pro VAR_030048 rs387906967
26 IRF6 p.Arg45Gln VAR_030049 rs121434229
27 IRF6 p.Thr64Ile VAR_030050
28 IRF6 p.Arg84Gly VAR_030051
29 IRF6 p.Thr100Ala VAR_030052
30 IRF6 p.Leu251Pro VAR_030053
31 IRF6 p.Glu349Val VAR_030054
32 IRF6 p.Pro396Ser VAR_030055 rs121434230
33 IRF6 p.Arg400Trp VAR_030056 rs28942095
34 IRF6 p.Arg339Ile VAR_059080 rs121434231

Copy number variations for Van Der Woude Syndrome 1 from CNVD:

7
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 26163 1 197500000 222100000 Microdeletion van der Woude syndrome
2 26164 1 197500000 222100000 Microdeletion IRF6 van der Woude syndrome
Sources

Expression for Van Der Woude Syndrome 1

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Search GEO for disease gene expression data for Van Der Woude Syndrome 1.
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Pathways for Van Der Woude Syndrome 1

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Pathways related to Van Der Woude Syndrome 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Wnt / Hedgehog / Notch 4
11.52 TGFB3 RIPK4 PAX9 MSX1
2
Embryonic and Induced Pluripotent Stem Cells and Lineage-specific Markers 64
11.46 TP63 MSX1 IRF6
3
Hypothetical Craniofacial Development Pathway 1
9.92 TP63 TGFB3 TFAP2A IRF6 ARHGAP29
Sources

GO Terms for Van Der Woude Syndrome 1

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Cellular components related to Van Der Woude Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.8 VAX1 TP63 TGFB3 TFAP2A TBX22 TBX10
2 nuclear chromatin GO:0000790 9.4 VAX1 TP63 TFAP2A TBX22 TBX10 PAX9

Biological processes related to Van Der Woude Syndrome 1 according to GeneCards Suite gene sharing:

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 10.09 VAX1 TP63 TBX22 PAX9 NHLH1 MSX1
2 cell differentiation GO:0030154 10.06 VAX1 TP63 NHLH1 KDF1 IRF6 FOXE1
3 regulation of transcription by RNA polymerase II GO:0006357 10.04 VAX1 TFAP2A TBX10 NHLH1 GRHL3 GRHL2
4 negative regulation of transcription by RNA polymerase II GO:0000122 10 VAX1 TP63 TFAP2A TBX22 TBX10 MSX1
5 regulation of transcription, DNA-templated GO:0006355 9.9 VAX1 TP63 TFAP2A TBX22 TBX10 PAX9
6 positive regulation of transcription, DNA-templated GO:0045893 9.87 TP63 TGFB3 TFAP2A IRF6 GRHL3 GRHL2
7 negative regulation of transcription, DNA-templated GO:0045892 9.8 TP63 TFAP2A TBX22 PAX9 MSX1 HR
8 central nervous system development GO:0007417 9.77 VAX1 NHLH1 GRHL3
9 epidermis development GO:0008544 9.77 TP63 GRHL3 GRHL2
10 odontogenesis GO:0042476 9.69 TGFB3 PAX9 MSX1
11 hair follicle morphogenesis GO:0031069 9.61 TP63 FOXE1
12 embryonic forelimb morphogenesis GO:0035115 9.61 TP63 TFAP2A MSX1
13 establishment of planar polarity GO:0001736 9.58 TP63 GRHL3
14 face morphogenesis GO:0060325 9.58 TGFB3 PAX9 MSX1
15 eyelid development in camera-type eye GO:0061029 9.57 TFAP2A GRHL3
16 cranial skeletal system development GO:1904888 9.56 TP63 FOXE1
17 negative regulation of keratinocyte differentiation GO:0045617 9.54 TP63 GRHL2
18 establishment of skin barrier GO:0061436 9.54 TP63 KDF1 GRHL3
19 regulation of odontogenesis GO:0042481 9.52 PAX9 MSX1
20 regulation of epidermal cell division GO:0010482 9.48 TP63 KDF1
21 positive regulation of transcription by RNA polymerase II GO:0045944 9.36 TP63 TGFB3 TFAP2A TBX22 TBX10 PAX9
22 roof of mouth development GO:0060021 9.35 VAX1 TFAP2A MSX1 IRF6 FOXE1

Molecular functions related to Van Der Woude Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 10.07 VAX1 TP63 TFAP2A TBX22 TBX10 PAX9
2 sequence-specific DNA binding GO:0043565 9.92 VAX1 TP63 TFAP2A MSX1 IRF6 GRHL3
3 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 9.88 TFAP2A TBX22 TBX10 PAX9 NHLH1 MSX1
4 DNA-binding transcription factor activity GO:0003700 9.85 VAX1 TP63 TFAP2A TBX22 TBX10 PAX9
5 transcription regulatory region sequence-specific DNA binding GO:0000976 9.73 TP63 TFAP2A IRF6 HR
6 chromatin DNA binding GO:0031490 9.67 VAX1 HR GRHL3 GRHL2
7 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.61 TP63 TFAP2A TBX22 TBX10 PAX9 NHLH1
8 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.4 VAX1 TP63 TFAP2A TBX22 TBX10 PAX9
Sources

Sources for Van Der Woude Syndrome 1

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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